A case of type 2 Gm1-gangliosidosis with long survival.
An 11-year-old boy with type 2 GM1-gangliosidosis was presented, providing further evidence for the clinical and biochemical heterogeneity of the disease. The patient had several characteristics of type 2 GM1-gangliosidosis, but was different from so-called typical type 2 GM1-gangliosidosis from the point of view of survival and the degree of GM1-ganglioside accumulation. GM1-gangliosidosis was diagnosed by absence of beta-galactosidase activity in leukocytes and the parents had the enzyme levels of heterozygotes. However, the amount of the brain GM1-ganglioside was accumulated to a less degree in comparison with that of typical type 2 GM1-gangliosidosis, though the activity of GM1-beta-galactosidase in the brain was deficient to the same degree as in the typical case.
D002648:Child; D005677:G(M1) Ganglioside / Q000378:metabolism; D005733:Gangliosidoses / Q000175:diagnosis* / Q000201:enzymology; D006801:Humans; D007787:Lactose Intolerance / Q000175:diagnosis / Q000201:enzymology; D007962:Leukocytes / Q000201:enzymology; D008297:Male; D011379:Prognosis; D001616:beta-Galactosidase / Q000378:metabolism
D005677:G(M1) Ganglioside; D001616:beta-Galactosidase